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Early onset or syndromic epilepsy v2.0 EIF2B3 Louise Daugherty Tag watchlist was removed from gene: EIF2B3.
Early onset or syndromic epilepsy v2.0 EIF2B3 Louise Daugherty commented on gene: EIF2B3
Early onset or syndromic epilepsy v1.233 EIF2B3 Rebecca Foulger Marked gene: EIF2B3 as ready
Early onset or syndromic epilepsy v1.233 EIF2B3 Rebecca Foulger Gene: eif2b3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.223 EIF2B3 Rebecca Foulger Classified gene: EIF2B3 as Green List (high evidence)
Early onset or syndromic epilepsy v1.223 EIF2B3 Rebecca Foulger Gene: eif2b3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.222 EIF2B3 Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green. Epilepsy is a feature of Vanishing White Matter Disorder, and therefore should include on the panel for early diagnosis in children. Promoted from Amber to Green.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green. Epilepsy is a feature of Vanishing White Matter Disorder, and therefore should include on the panel for early diagnosis in children. Promoted from Amber to Green.
Early onset or syndromic epilepsy v1.217 EIF2B3 Rebecca Foulger Classified gene: EIF2B3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.217 EIF2B3 Rebecca Foulger Gene: eif2b3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.216 EIF2B3 Rebecca Foulger commented on gene: EIF2B3: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green. Epilepsy is a feature of Vanishing White Matter Disorder, and therefore should include on the panel for early diagnosis in children. Promoted from Amber to Green.
Early onset or syndromic epilepsy v1.191 EIF2B3 Rebecca Foulger Source Wessex and West Midlands GLH was added to EIF2B3.
Early onset or syndromic epilepsy v1.190 EIF2B3 Rebecca Foulger Source NHS GMS was added to EIF2B3.
Early onset or syndromic epilepsy v1.189 EIF2B3 Rebecca Foulger edited their review of gene: EIF2B3: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 EIF2B3 Tracy Lester reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21307862; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1321 EIF2B3 Rebecca Foulger Marked gene: EIF2B3 as ready
Early onset or syndromic epilepsy v0.1321 EIF2B3 Rebecca Foulger Gene: eif2b3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1304 EIF2B3 Rebecca Foulger Marked gene: EIF2B3 as ready
Early onset or syndromic epilepsy v0.1304 EIF2B3 Rebecca Foulger Gene: eif2b3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1304 EIF2B3 Rebecca Foulger Tag watchlist tag was added to gene: EIF2B3.
Early onset or syndromic epilepsy v0.1304 EIF2B3 Rebecca Foulger Classified gene: EIF2B3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1304 EIF2B3 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber after discussion in Genomics England Curation team. Although other EIF2B subunits are also associated with Vanishing white matter (VWM) and rated Green on the panel, there are currently insufficient clinical/literature cases of patients with EIF2B3 and seizures (1 patient in 19158808). Therefore added 'watchlist' tag while awaiting further cases.
Early onset or syndromic epilepsy v0.1304 EIF2B3 Rebecca Foulger Gene: eif2b3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1204 EIF2B3 Rebecca Foulger Publications for gene: EIF2B3 were set to
Early onset or syndromic epilepsy v0.1203 EIF2B3 Rebecca Foulger commented on gene: EIF2B3
Early onset or syndromic epilepsy v0.1203 EIF2B3 Rebecca Foulger Phenotypes for gene: EIF2B3 were changed from to Leukoencephalopathy with vanishing white matter, 603896
Early onset or syndromic epilepsy v0.1202 EIF2B3 Rebecca Foulger Mode of inheritance for gene: EIF2B3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy EIF2B3 Zornitza Stark reviewed gene: EIF2B3
Early onset or syndromic epilepsy EIF2B3 Sarah Leigh Added gene to panel